Canonical Allele Identifier: CA359786552

Gene: MAP3K1

Linked Data

• gnomAD v4: 5-56881952-A-G
• MyVariant Identifiers: chr5:g.56177779A>G (hg19) ; chr5:g.56881952A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881952A>G , CM000667.2:g.56881952A>G	GRCh38
NC_000005.9:g.56177779A>G , CM000667.1:g.56177779A>G	GRCh37
NC_000005.8:g.56213536A>G	NCBI36
NG_031884.1:g.71880A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2752A>G MANE Select	ENSP00000382423.3:p.Thr918Ala
ENST00000399503.3:c.2752A>G	ENSP00000382423.3:p.Thr918Ala
NM_005921.1:c.2752A>G	NP_005912.1:p.Thr918Ala
XM_005248519.3:c.2374A>G	XP_005248576.2:p.Thr792Ala
XM_011543406.1:c.2497A>G	XP_011541708.1:p.Thr833Ala
XM_011543407.1:c.2473A>G	XP_011541709.1:p.Thr825Ala
XM_011543408.1:c.2752A>G	XP_011541710.1:p.Thr918Ala
XM_017009484.1:c.2341A>G	XP_016864973.1:p.Thr781Ala
XM_017009485.1:c.2263A>G	XP_016864974.1:p.Thr755Ala
XR_001742068.2:n.2783A>G
NM_005921.2:c.2752A>G MANE Select	NP_005912.1:p.Thr918Ala